Neonatal Med.  2021 May;28(2):94-98. 10.5385/nm.2021.28.2.94.

Neonatal Diabetes Mellitus Due to KCNJ11 (KIR6.2) Mutation Successfully Treated with Sulfonylurea

• Jang S
• Yang M
• Ahn SY
• Sung SI
• Chang YS
• Park WS

• KMID: 2516492
• DOI: http://doi.org/10.5385/nm.2021.28.2.94

Abstract

Neonatal diabetes mellitus (NDM) is a rare disease that occurs at less than 6 months of age and is presumably caused by a mutation in the gene that affects pancreatic beta-cell function. Approximately 80% of NDM cases reveal a known genetic mutation, and mutations in potassium inwardly rectifying channel subfamily J member 11 (KCNJ11) and ABCC8 affecting the pancreatic beta-cell adenosine triphosphate-sensitive potassium channel may be treated with oral sulfonylurea. Early recognition of mutations in KCNJ11 and ABCC8 is important because early administration of sulfonylurea can not only control blood glucose levels but also improve neurodevelopmental outcomes. In the present study, we report a case of NDM that initially presented as diabetic ketoacidosis at the age of 1 month, accompanied by seizures during hospitalization. After confirmation of the KCNJ11 gene mutation (c.989A>C), we started administering oral sulfonylurea (glimepiride) at the age of 2 months. After gradually increasing the dosage of glimepiride, insulin was discontinued at the age of 3 months. To date, the infant’s blood glucose levels have been well controlled without significant hypoglycemic events. No further episodes of seizures have occurred, and his developmental status is favorable.

Keyword

Diabetes mellitus, permanent neonatal; Kir6.2 channel; Sulfonylurea compounds; Glimepiride

Figure

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  Figure 1. Direct sequencing of the potassium inwardly rectifying channel subfamily J member 11 (KCNJ11) gene revealed a heterozygous mutation of c.989A>C (p.Tyr330Ser).

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  Figure 2. The clinical course of the present case. After initiation of sulfonylurea treatment, insulin was discontinued and the C- peptide level was maintained in the normal range.

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